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| Cystic kidney disease v4.17 | ALG5 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ALG5. Tag Q1_23_NHS_review was removed from gene: ALG5. |
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| Cystic kidney disease v4.17 | ALG5 | Achchuthan Shanmugasundram reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v4.16 | ALG5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG5. Source NHS GMS was added to ALG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cystic kidney disease v3.9 | ALG5 | Arina Puzriakova Classified gene: ALG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v3.9 | ALG5 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v3.9 | ALG5 | Arina Puzriakova Gene: alg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v3.8 | ALG5 |
Arina Puzriakova gene: ALG5 was added gene: ALG5 was added to Cystic kidney disease. Sources: Literature Q1_23_promote_green, Q1_23_NHS_review tags were added to gene: ALG5. Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG5 were set to 35896117 Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056 Review for gene: ALG5 was set to GREEN Added comment: New gene suggested for this panel by Prof John Sayer (Newcastle Hospitals NHS Foundation Trust). Associated with a relevant phenotype in OMIM (MIM# 620056) but is not yet listed in G2P. Lemoine et al., 2022 (PMID: 35896117) reported 19 patients from 5 unrelated families with adult-onset polycystic kidney disease and monoallelic variants in this gene. Affected individuals had non-enlarged cystic kidneys and few or no liver cysts, and some patients reached end-stage kidney disease from 62 to 91 years of age. Sources: Literature |
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